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Inherited genetic variation
A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). Mutations
Germline_mutation
Alteration in the nucleotide sequence of a genome
constitutional mutation in a parent. A germline mutation can be passed down through subsequent generations of organisms. The distinction between germline and somatic
Mutation
Situation in which some gamete-producing cells are affected by a mutation
osteogenesis imperfecta because of germline mosaicism. It is possible for parents unaffected by germline mutations to produce an offspring with an autosomal
Germline_mosaicism
Genetic mutation not inherited from a parent
A de novo mutation is a newly present mutation in an individual organism. These may occur in gametogenesis due to a germline mutation in a parent, or
De_novo_mutation
Type of mutation on somatic cell
cell, or gametocyte. Unlike germline mutations, which can be passed on to the descendants of an organism, somatic mutations are not usually transmitted
Somatic_mutation
Cells of a multicellular organism that pass on genetic material to progeny
not in the germline are called somatic cells. According to this definition, mutations, recombinations and other genetic changes in the germline may be passed
Germline
Genetic brain disorder
methylated DNA), and can arise sporadically or from germline mutations. In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found
Rett_syndrome
cancer genes. GT198 is found to have mutation, amplification, recombination and distance translocation in germline DNA of one case of human breast cancer
PSMC3_interacting_protein
Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (2015). "Elevated germline mutation rate in teenage fathers". Proc R Soc B. 282 (1803): 1–6. doi:10.1098/rspb
List_of_oldest_fathers
Gene known for its role in breast cancer
germline BRCA2 mutations identified to date have been inherited, suggesting the possibility of a large "founder" effect in which a certain mutation is
BRCA2
Indian man (1916–2020)
Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (2015). "Elevated germline mutation rate in teenage fathers". Proc R Soc B. 282 (1803): 1–6. doi:10.1098/rspb
Ramjit_Raghav
Autosomal dominant cancer syndrome
Adrenal Gland cancers that it is known to cause. LFS is caused by germline mutations (also called genetic variants) in the TP53 tumor suppressor gene,
Li–Fraumeni_syndrome
Rate at which mutations occur during some unit of time
type of mutation; there are many different types of mutations. Mutation rates are given for specific classes of mutations. A point mutation is a change
Mutation_rate
Mammalian protein found in Homo sapiens
estimated that the total prevalence of germline or somatic ATM mutations in pancreatic cancer was 6.4%. ATM mutations may serve as predictive biomarkers of
ATM_serine/threonine_kinase
Paired box gene 3
unibrow. Germline mutations of the Pax3 gene cause the splotch phenotype in mice. At the molecular level, this phenotype is caused by point mutations or deletions
PAX3
Type of cancer
sarcoma susceptibility. Sometimes Ewing sarcoma is associated with a germline mutation. The underlying mechanism often involves a genetic change known as
Ewing_sarcoma
Medical condition
validated genetic cause of SPS is germline mutations in RNF43. However, most individuals with SPS do not have a germline mutation in any of the associated genes
Serrated_polyposis_syndrome
Inherited condition raising colon cancer risk
underlying germline MSH2 mutation, and those with an IHC profile showing loss of both MLH1 and PMS2 are likely to have a germline MLH1 mutation. Genetic
Hereditary nonpolyposis colorectal cancer
Hereditary_nonpolyposis_colorectal_cancer
Mutation at a location where intron splicing takes place
SE, et al. (December 1994). "Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families". Nature Genetics
Splice_site_mutation
Tumor or other abnormal growth of tissue
cancer. Some germline mutations in DNA repair genes cause up to 100% lifetime chance of cancer (e.g., p53 mutations). These germline mutations are indicated
Neoplasm
Family of genetic conditions caused by mutations affecting Ras genes
The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include
RASopathy
Phosphoglyceride attached to proteins
case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT". Blood. 122 (7): 1312–5. doi:10.1182/blood-2013-01-481499
Glycosylphosphatidylinositol
Pathology protocol to assess cancer risk
family history of breast and ovarian cancer or a documented inherited (germline) mutation in a BRCA gene are encouraged to consider risk reduction salpingo-oophorectomy
SEE-FIM_Protocol
Human genetic disorder
Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ (2002). "Germline mutation of the tumour suppressor PTEN in Proteus syndrome". J. Med. Genet
Proteus_syndrome
How an animal develops its sexual-reproduction cells
primordial germ cells, migrate to the location of the gonad, and form the germline of the animal. Cleavage in most animals segregates cells containing germ
Germline_development
Genetic condition involving facial, heart, blood and skeletal features
of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study". Croatian Medical Journal. 54 (6): 574–8
Noonan_syndrome
Type of neurofibromatosis disease
productive and full lives. NF-1 is a developmental syndrome caused by germline mutations in neurofibromin, a gene that is involved in the RAS pathway (RASopathy)
Neurofibromatosis_type_I
Cellular mechanism in B cells
involves a programmed process of mutation affecting the variable regions of immunoglobulin genes. Unlike germline mutation, SHM affects only an organism's
Somatic_hypermutation
Genophore Genotype Germ cell Germ line Germ-line theory Germinal mutation Germline mutation Giemsa stain Gln Glutamic acid Gly God gene Gradient gRNA Ground
Index_of_genetics_articles
Rare genetic disorder
regulates cell cycle, growth and differentiation. An inactivating germline mutation in exon 1 of the tumor suppressor gene SMARCB1 has been reported in
Schwannomatosis
Suite of free genome analysis software by Nvidia
offers workflows for DNA and RNA analyses and the detection of germline and somatic mutations, using open-source tools. It is designed to improve the computing
Nvidia_Parabricks
Change in the heritable traits of populations
transfer of heritable variations along the germline. To explain how new variants originate, de Vries developed a mutation theory that led to a temporary rift
Evolution
Replacement, insertion, or deletion of a single DNA or RNA nucleotide
then this single point mutation can change the entire process of cellular reproduction for this organism. Point germline mutations can lead to beneficial
Point_mutation
Growth disorder
Pasi I. (26 May 2006). "Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene". Science. 312 (5777): 1228–1230. Bibcode:2006Sci
Gigantism
Protein-coding gene in the species Homo sapiens
biallelic germline mutations of MBD4 have been identified in acute myeloid leukemias, uveal melanomas, and glioblastomas. and monoallelic MBD4 germline mutations
MBD4
Familial syndrome causing hamartomas and cancers
syndrome is inherited in an autosomal dominant fashion.[page needed] Germline mutations in PTEN (phosphatase and tensin homolog), a tumor suppressor gene
Cowden_syndrome
Process of editing the human genome so that the changes are inherited
regarding human germline engineering, the researchers attempted to edit the HBB gene which codes for the human β-globin protein. HBB mutations produce β-thalassaemia
Human_germline_engineering
Biological term for all non-reproductive bodily cells
organs. Somatic mutations are changes to the genetics of a multicellular organism that are not passed on to its offspring through the germline. Most cancers
Somatic_(biology)
Medical condition
parents, they are classified as hereditary or germline mutations rather than acquired or somatic mutations. Cancer caused by a mutated gene inherited from
BRCA_mutation
Benign cartilaginous tumor which grows on the surface of a bone
multiple osteochondromas is an autosomal dominant inherited disease. Germline mutations in EXT1 and EXT2 genes located on chromosomes 8 and 11 have been associated
Osteochondroma
Cancerous tumor of the developing eye
Correct treatment also depends on the mutation type, whether it is a germline RB1 mutation, a sporadic RB1 mutation or MYCN amplification with functional
Retinoblastoma
Genetic disorder that causes early aging
an early age. Its occurrence is usually the result of a sporadic germline mutation; although HGPS is genetically dominant, people rarely live long enough
Progeria
Topics referred to by the same term
mean 'from the beginning', 'anew') may refer to: De novo mutation, a new germline mutation not inherited from either parent De novo protein design, the
De_novo
Protein found in humans
2004 and this clinical entity is known to be due to having biallelic germline mutations in the DOCK8 gene. HIES due to DOCK8-deficiency has a distinct clinical
Dedicator of cytokinesis protein 8
Dedicator_of_cytokinesis_protein_8
Repeating sequences of 2–13 base pairs of DNA
Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (March 2015). "Elevated germline mutation rate in teenage fathers". Proceedings. Biological Sciences. 282 (1803)
Microsatellite
Rare neuroendocrine tumour
Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL (March 2010). "Germline mutations in TMEM127 confer susceptibility to pheochromocytoma". Nature Genetics
Paraganglioma
DNA mutation
Gondo Y, Nakabeppu Y (2014). "8-oxoguanine causes spontaneous de novo germline mutations in mice". Sci Rep. 4: 4689. Bibcode:2014NatSR...4E4689O. doi:10.1038/srep04689
Transversion
Cancer associated with asbestos
white American population in 2012, it was found that people with a germline mutation in their BAP1 gene are at higher risk of developing mesothelioma and
Mesothelioma
Portion of gene's sequence which codes for protein
missense mutations. Other types of mutations include frameshift mutations such as insertions or deletions. Some forms of mutations are hereditary (germline mutations)
Coding_region
Medical condition
clinical evaluation. SKS can be confirmed with the detection of a germline or mosaic mutation in the MTOR gene. Frequency of this disease is unknown, but all
Smith–Kingsmore_syndrome
Inherited genetic condition that predisposes a person to cancer
producing an affected child. The mutation in the inherited gene is known as a germline mutation and a further mutation in the normal allele results in
Hereditary_cancer_syndrome
Internal organ in the male reproductive system
heat-induced DNA damage that could otherwise lead to infertility and germline mutation. The relative size of the testes is often influenced by mating systems
Testicle
Nuclear testing venue for the Soviet Union in northeast Kazakhstan
still not sure what the germline mutations mean for the individuals' health, but there is increasing evidence these mutations may increase genetic predisposition
Semipalatinsk_Test_Site
Medical condition
Barrett-Lee P, Easton DF, Ponder BA, Stratton MR (October 1992). "A germline mutation in the androgen receptor gene in two brothers with breast cancer and
Androgen insensitivity syndrome
Androgen_insensitivity_syndrome
Organism composed of cells of different genotypes
are passed to them because their mother retained them).[citation needed] Germline chimerism occurs when the germ cells (for example, sperm and egg cells)
Chimera_(genetics)
Medical condition
segregating a germline mutation and rhabdoid tumor supports the hypothesis that variable risks of development of rhabdoid tumor in the context of a germline mutation
Atypical teratoid rhabdoid tumor
Atypical_teratoid_rhabdoid_tumor
Medical condition
colon and an increased risk of colorectal cancer. It is caused by germline mutations in DNA polymerase ε (POLE) and δ (POLD1). Affected individuals develop
Polymerase proofreading-associated polyposis
Polymerase_proofreading-associated_polyposis
Malignant thyroid neoplasm originating from C-cells
development and its germline mutation is responsible for nearly all cases of hereditary or familial medullary thyroid carcinoma. Its germline mutation may also be
Medullary_thyroid_cancer
Occurrence in an interbreeding population of two or more discontinuous genotypes
to be clear when discussing mutations whether it is a somatic mutation or germline mutation. In the case of silent mutations, there is no change in fitness
Gene_polymorphism
male-to-female ratio in mutation rates ranges from 4 to 7. It also proved that the mutation bias is mostly resulted from more male germline mutation than the female
Mutation_bias
Chemical compound (cancer therapy drug)
spread (metastasized) and whose tumors have a specific inherited (germline) genetic mutation, making it the first drug in its class (PARP inhibitor) approved
Olaparib
Hypothesis that aging is caused by accumulated DNA damage
Oktay, Kutluk (October 1, 2017). "Ovarian Aging in Women With BRCA Germline Mutations". The Journal of Clinical Endocrinology and Metabolism. 102 (10):
DNA_damage_theory_of_aging
American immunologist and geneticist
in finding induced germline mutations, positional cloning remained a slow process, limited by the need to genetically map mutations to chromosomal intervals
Bruce_Beutler
Immune disorder
Gundlapalli, John F. Bohnsack, Karl V. Voelkerding (October 17, 2013). "Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis
Common variable immunodeficiency
Common_variable_immunodeficiency
Group of diseases involving cell growth
of cancer (e.g. p53 mutations). Germline DNA repair mutations are noted on the figure's left side. However, such germline mutations (which cause highly
Cancer
Family of protease enzymes
PMID 21880666. Rim JH, Choi YJ, Gee HY (March 2020). "Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence
ADAMTS
Growth found in bowel wall
the mutation and it is autosomal dominant. 10–20% of patients have negative family history and acquire the syndrome from spontaneous germline mutation. The
Colorectal_polyp
Science of genes, heredity and variation
2015). "Biotechnology. A prudent path forward for genomic engineering and germline gene modification". Science. 348 (6230): 36–38. Bibcode:2015Sci...348.
Genetics
Neurodegenerative disorder with brain iron accumulation
females than males with this disease due to nonviability in males with germline mutations because males have only one X chromosome, where the WDR45 gene is
Beta-propeller protein-associated neurodegeneration
Beta-propeller_protein-associated_neurodegeneration
American biochemist (born 1946)
"Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation". Cell. 151 (7): 1431–1442. doi:10.1016/j.cell.2012.11.019. PMC 3712641
Gerald_Crabtree
Group of genetic conditions
suppressor gene carcinogenesis (30). The first hit is a heterozygous MEN1 germline mutation, inherited from one parent (familial cases) or developed in an early
Multiple_endocrine_neoplasia
genetic genealogy, the mutations considered to be UEPs can be any germline mutation. They are usually single-nucleotide polymorphisms (SNP) – the replacement
Unique-event_polymorphism
Chinese-American physician (1940–2015)
colleague Joseph Fraumeni, of Li–Fraumeni syndrome, which is caused by germline mutations of the p53 tumor suppressor gene and genetically predisposes families
Frederick_Pei_Li
Medical condition
from that associated with germline STAT3 mutations shown to confer a loss-of-function (LOF). STAT3 loss-of-function mutations are responsible for hyperimmunoglobulin
STAT3_GOF
Legal status of a child born to parents who are legally married
Schürenkamp, M; Pfeiffer, H; Neuhuber, F; Brinkmann, B (2015). "Elevated germline mutation rate in teenage fathers". Proc Biol Sci. 282 (1803) 20142898. doi:10
Legitimacy_(family_law)
Protein-coding gene in humans
Several germline KRAS mutations have been found to be associated with Noonan syndrome and cardio-facio-cutaneous syndrome. Somatic KRAS mutations are found
KRAS
Human disease (cancer)
GIST, pulmonary chondroma and extra-adrenal paraganglioma), germline gain-of-function mutations in c-KIT/PDGFRA, and the Carney-Stratakis syndrome. The Carney-Stratakis
Gastrointestinal stromal tumor
Gastrointestinal_stromal_tumor
Cheating, adultery, or having an affair
Schürenkamp, M; Pfeiffer, H; Neuhuber, F; Brinkmann, B (2015). "Elevated germline mutation rate in teenage fathers". Proc Biol Sci. 282 (1803) 20142898. doi:10
Infidelity
In addition, traditional sequencing can be useful for detection of germline mutations, but may be less successful in detecting somatic minor alleles at
Surveyor_nuclease_assay
Study of the evolutionary development of ageing processes
accumulation of random, germline age-related mutated alleles is known as mutation accumulation. Note that somatic mutations are not heritable, they are
Evolution_of_ageing
Mammalian protein found in humans
2014). "Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4". Science. 345 (6204): 1623–1627. Bibcode:2014Sci...345.1623K
Cytotoxic T-lymphocyte associated protein 4
Cytotoxic_T-lymphocyte_associated_protein_4
Pregnancy at older ages
Heidi; Neuhuber, Franz; Brinkmann, Bernd (22 March 2015). "Elevated germline mutation rate in teenage fathers". Proceedings of the Royal Society B: Biological
Advanced_maternal_age
Family of genetic disorders
approximately 1 in 2500-3000 live births. It is a genetic disorder due to a germline mutation in the NF1 gene. This gene encodes a protein called neurofibromin
Phakomatosis
Cancer originating in or on the ovary
recombination DNA repair, and germline mutations in these genes are found in about 15% of women with ovarian cancer. The most common mutations in BRCA1 and BRCA2
Ovarian_cancer
Rare genetic disorder
chance that she is a carrier and a 1/3 chance that the son has a new germline mutation.[citation needed] The risk to siblings of an affected individual depends
Lesch–Nyhan_syndrome
Health effects of an older father at conception
Schürenkamp M, Pfeiffer H, Neuhuber F, Brinkmann B (2015). "Elevated germline mutation rate in teenage fathers". Proc R Soc B. 282 (1803): 1–6. doi:10.1098/rspb
Paternal_age_effect
Gamete-producing cell
is 5 to 10-fold lower than the mutation frequency in somatic cells Thus low mutation frequency is a feature of germline cells in both sexes. Homologous
Germ_cell
Medical condition
development, which include genetic mutations, hereditary syndrome, renal injuries, and lifestyle factors. Germline mutation of c-MET oncogene and fumarate
Papillary renal cell carcinoma
Papillary_renal_cell_carcinoma
Rare autosomal dominant cancer syndrome
Very rarely, missense mutations are observed. The mutations in the FLCN gene that cause Birt–Hogg–Dubé syndrome are germline mutations, which means that they
Birt–Hogg–Dubé_syndrome
DNA mutation involving an increase in number of trinucleotide repeats
(February 1999). "Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism". Human Molecular Genetics
Trinucleotide repeat expansion
Trinucleotide_repeat_expansion
Protein-coding gene in Homo sapiens
Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T (Nov 1997). "Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer"
MSH6
DNA repair mechanism
Cockayne syndrome (CS) arises from germline mutations in either of two genes ERCC8(CSA) or ERCC6(CSB). ERCC8(CSA) mutations generally give rise to a more moderate
Nucleotide_excision_repair
Protein-coding gene in humans
(November 2002). "Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations". Human Molecular Genetics
MUTYH
Possession of multiple genetic lineages within a multi-cellular organism
source needed] Germline or gonadal mosaicism is a particular form of mosaicism wherein some gametes—i.e., sperm or oocytes—carry a mutation, but the rest
Mosaic_(genetics)
displays high mutation counts of multiple mutation classes and is associated with germline and somatic (biology) BRCA1 and BRCA2 mutations in several cancer
Mutational_signatures
Region with a lack of blood flow due to vein malformation
without one. Somatic mutations in MAP3K3 and PIK3CA have been identified in sporadic lesions; familial disease arises from germline mutations in the CCM genes
Cavernous_hemangioma
Protein-coding gene in the species Homo sapiens
number of types of replication-linked DNA repair following DNA damage. Germline mutations impairing activity of POLD1 have been implicated in several types
POLD1
Medical condition
as such is the most common germline mutation responsible for familial MDS/AML in this age group. Inactivating GATA2 mutations appear responsible for ~15%
GATA2_deficiency
Study of the role of the genome in drug response
(Tarceva) are only indicated in patients carrying specific mutations to EGFR. Germline mutations in drug targets can also influence response to medications
Pharmacogenomics
Protein-coding gene in humans
is the second most commonly inactivated gene in cancer after p53. Germline mutations of CDKN2A are associated with familial melanoma, glioblastoma and
CDKN2A
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